← Back to variant description
GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 15-79845388-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=79845388&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 79845388,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000258874.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFS",
"gene_hgnc_id": 7437,
"hgvs_c": "c.434G>T",
"hgvs_p": "p.Arg145Leu",
"transcript": "NM_006441.4",
"protein_id": "NP_006432.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 203,
"cds_start": 434,
"cds_end": null,
"cds_length": 612,
"cdna_start": 460,
"cdna_end": null,
"cdna_length": 2301,
"mane_select": "ENST00000258874.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFS",
"gene_hgnc_id": 7437,
"hgvs_c": "c.434G>T",
"hgvs_p": "p.Arg145Leu",
"transcript": "ENST00000258874.4",
"protein_id": "ENSP00000258874.4",
"transcript_support_level": 1,
"aa_start": 145,
"aa_end": null,
"aa_length": 203,
"cds_start": 434,
"cds_end": null,
"cds_length": 612,
"cdna_start": 460,
"cdna_end": null,
"cdna_length": 2301,
"mane_select": "NM_006441.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST20-MTHFS",
"gene_hgnc_id": 44655,
"hgvs_c": "c.362G>T",
"hgvs_p": "p.Arg121Leu",
"transcript": "ENST00000479961.1",
"protein_id": "ENSP00000455643.1",
"transcript_support_level": 3,
"aa_start": 121,
"aa_end": null,
"aa_length": 179,
"cds_start": 362,
"cds_end": null,
"cds_length": 540,
"cdna_start": 666,
"cdna_end": null,
"cdna_length": 859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFS",
"gene_hgnc_id": 7437,
"hgvs_c": "c.521G>T",
"hgvs_p": "p.Arg174Leu",
"transcript": "ENST00000559722.2",
"protein_id": "ENSP00000489076.1",
"transcript_support_level": 2,
"aa_start": 174,
"aa_end": null,
"aa_length": 232,
"cds_start": 521,
"cds_end": null,
"cds_length": 699,
"cdna_start": 536,
"cdna_end": null,
"cdna_length": 948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST20-MTHFS",
"gene_hgnc_id": 44655,
"hgvs_c": "c.362G>T",
"hgvs_p": "p.Arg121Leu",
"transcript": "NM_001199760.2",
"protein_id": "NP_001186689.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 179,
"cds_start": 362,
"cds_end": null,
"cds_length": 540,
"cdna_start": 427,
"cdna_end": null,
"cdna_length": 2268,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST20-MTHFS",
"gene_hgnc_id": 44655,
"hgvs_c": "c.362G>T",
"hgvs_p": "p.Arg121Leu",
"transcript": "ENST00000615374.5",
"protein_id": "ENSP00000489525.1",
"transcript_support_level": 3,
"aa_start": 121,
"aa_end": null,
"aa_length": 179,
"cds_start": 362,
"cds_end": null,
"cds_length": 540,
"cdna_start": 441,
"cdna_end": null,
"cdna_length": 679,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFS",
"gene_hgnc_id": 7437,
"hgvs_c": "c.263G>T",
"hgvs_p": "p.Arg88Leu",
"transcript": "NM_001199758.1",
"protein_id": "NP_001186687.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 146,
"cds_start": 263,
"cds_end": null,
"cds_length": 441,
"cdna_start": 442,
"cdna_end": null,
"cdna_length": 2283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST20-MTHFS",
"gene_hgnc_id": 44655,
"hgvs_c": "c.356G>T",
"hgvs_p": "p.Arg119Leu",
"transcript": "ENST00000494999.1",
"protein_id": "ENSP00000489298.1",
"transcript_support_level": 3,
"aa_start": 119,
"aa_end": null,
"aa_length": 121,
"cds_start": 356,
"cds_end": null,
"cds_length": 368,
"cdna_start": 620,
"cdna_end": null,
"cdna_length": 632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFS",
"gene_hgnc_id": 7437,
"hgvs_c": "n.541G>T",
"hgvs_p": null,
"transcript": "NR_037654.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2382,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFS",
"gene_hgnc_id": 7437,
"hgvs_c": "n.-62G>T",
"hgvs_p": null,
"transcript": "ENST00000560261.1",
"protein_id": "ENSP00000454318.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MTHFS",
"gene_hgnc_id": 7437,
"dbsnp": "rs753635972",
"frequency_reference_population": 0.0000013681107,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136811,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.97420334815979,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.762,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9658,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.42,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.19,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PM5,PP3_Strong",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM2",
"PM5",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000258874.4",
"gene_symbol": "MTHFS",
"hgnc_id": 7437,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.434G>T",
"hgvs_p": "p.Arg145Leu"
},
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM2",
"PM5",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000479961.1",
"gene_symbol": "ST20-MTHFS",
"hgnc_id": 44655,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.362G>T",
"hgvs_p": "p.Arg121Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}